Type II keratin

Mutations in keratin genes can lead to various genetic disorders that affect these tissues, such as epidermolysis bullosa simplex, a rare condition characterized by blistering and erosion of the skin and mucous membranes.

[1] Type IIA Keratins are characterized by their expression in tissues that undergo high stress, like soles of the feet or palms of the hand.

[3] Type IIA keratins have a unique structural feature that allows them to form coiled-coil dimers, which then assemble into tetramers and eventually into intermediate filaments.

[7] Type IIB keratins are a group of intermediate filament proteins that are primarily expressed in epithelial tissues, such as the skin, nails, and hair follicles.

Dysregulation of type IIB keratin expression or mutations in the KRT6B gene have been associated with a variety of skin disorders, including psoriasis, epidermolysis bullosa, and pachyonychia congenita.

From Uniprot. Figure shows the structure of KRT1 gene. The helix is formed by the type II keratins in green, and the type I keratins in grey. The green coils consists of type IIA and IIB keratins. Expressed in upper leg skin, mammalian vulva, upper arm skin and 106 other tissues. [ 4 ] Located on Chromosome 12, localized in the cell membrane and cytoplasm. [ 5 ]